Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Korea.
BMC Pediatr. 2023 Sep 8;23(1):451. doi: 10.1186/s12887-023-04293-7.
Nephrocalcinosis (NC) is defined as deposition of calcium in renal tubules and interstitium and is highly related with prematurity and monogenic diseases. Recent studies have reported that NC might be a specific finding of underlying hereditary renal diseases. This study evaluated the risk factors, underlying monogenic causes, and clinical outcomes of NC in Korean children according to gestational age (GA).
A total of 464 patients younger than 18 years who were diagnosed with NC by ultrasonography from January 2013 to December 2022 in Samsung Medical Center were enrolled. Medical record data of sex, GA, birth weight, underlying disease, medication history, ultrasonography and genetic analysis were reviewed retrospectively.
The male to female ratio was 1:0.98, and the mean age at first diagnosis of NC was 385 days. Approximately 62% of patients experienced confirmed resolution of NC after about one year. In comparison of the preterm (mean GA 28 weeks and 2 days) and full-term (mean GA 38 weeks and 2 days) groups, bronchopulmonary dysplasia, patent ductus arteriosus, and use of furosemide and vitamin D were more frequent in the preterm group. In the full-term group, a larger proportion of cases showed persistent NC without resolution and chronic kidney disease (CKD). Genetic analyses were performed in 56 patients, and the monogenic mutation rate was significantly higher in full-term children (OR 10.02, 95% CI [2.464-40.786], p = 0.001).
While the overall outcomes of pediatric NC are favorable, underlying monogenic causes should be studied, especially in full-term patients without known clinical risk factors.
肾钙质沉着症（NC）定义为钙在肾小管和肾间质中的沉积，与早产和单基因疾病高度相关。最近的研究表明，NC 可能是潜在遗传性肾脏疾病的特定表现。本研究根据胎龄（GA）评估了韩国儿童 NC 的危险因素、潜在的单基因病因和临床结局。
共纳入 2013 年 1 月至 2022 年 12 月在三星医疗中心通过超声诊断为 NC 的 464 名年龄小于 18 岁的患者。回顾性分析了性别、GA、出生体重、基础疾病、用药史、超声和基因分析的病历数据。
男女比例为 1:0.98，NC 的首次诊断平均年龄为 385 天。大约 62%的患者在大约一年后 NC 得到证实缓解。与早产儿（平均 GA 28 周+2 天）和足月儿（平均 GA 38 周+2 天）组相比，早产儿组更常出现支气管肺发育不良、动脉导管未闭以及使用呋塞米和维生素 D。在足月儿组中，更多的病例表现为持续的 NC 而不缓解和慢性肾脏病（CKD）。对 56 例患者进行了基因分析，发现足月儿的单基因突变率显著更高（OR 10.02，95%CI[2.464-40.786]，p=0.001）。
虽然儿科 NC 的总体结局良好，但应研究潜在的单基因病因，尤其是在无已知临床危险因素的足月儿患者中。
